Absence of ?-fucosidase activity in two sisters showing a different phenotype
- 1 March 1983
- journal article
- research article
- Published by Springer Nature in European Journal of Pediatrics
- Vol. 140 (1) , 27-29
- https://doi.org/10.1007/bf00661900
Abstract
Two Austrian sisters with a different phenotype of fucosidosis are presented. The diagnosis was established by demonstrating complete α-l-fucosidase deficiency in the patients' liver as well as an increased excretion of oligosaccharides in the urine and an absence of α-l-fucosidase activity in skin fibroblasts of one patient. No correlation between enzyme activity and the different expression of the disease was found.This publication has 12 references indexed in Scilit:
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